POLR3G

RNA polymerase III subunit G, the group of RNA polymerase subunits

Basic information

Region (hg38): 5:90471748-90514557

Links

ENSG00000113356 ∙ NCBI:10622 ∙ OMIM:617456 ∙ HGNC:30075 ∙ Uniprot:O15318 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the POLR3G gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the POLR3G gene is commonly pathogenic or not.

In the table, we include only reliable ClinVar variants with their consequences to MANE Select, Mane Plus Clinical transcripts, or transcripts with TSL equals 1. Click the count to view the source variants.

Warning: slight differences between displayed counts and the number of variants in ClinVar may occur, primarily due to (1) the application of a different transcript and/or consequence by our variant effect predictor or (2) differences in clinical significance: we classify Benign/Likely benign variants as Likely benign and Pathogenic/Likely pathogenic variants as Likely pathogenic.

Variant type	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous						0
missense			8	2		10
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	8	2	0

Variants in POLR3G

This is a list of pathogenic ClinVar variants found in the POLR3G region.

You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.

Position	Type	Phenotype	Significance	ClinVar
5-90473844-T-G		not specified	Uncertain significance (Oct 03, 2022)
5-90473863-G-T		not specified	Uncertain significance (Jun 12, 2023)
5-90473875-C-T		not specified	Uncertain significance (Jan 24, 2023)
5-90473925-C-T		not specified	Uncertain significance (Apr 24, 2023)
5-90474001-C-T		not specified	Uncertain significance (Feb 27, 2024)
5-90474016-A-T		not specified	Uncertain significance (Mar 26, 2024)
5-90474093-T-C		not specified	Likely benign (May 18, 2023)
5-90474112-C-A		not specified	Uncertain significance (Jun 26, 2024)
5-90474285-G-A		not specified	Uncertain significance (May 15, 2024)
5-90485571-G-T		not specified	Uncertain significance (May 16, 2024)
5-90485592-C-T		not specified	Uncertain significance (Aug 04, 2021)
5-90485614-T-A		not specified	Uncertain significance (May 14, 2024)
5-90485625-G-C		not specified	Uncertain significance (Feb 28, 2023)
5-90485670-C-A		Autism • not specified	Uncertain significance (Feb 28, 2023)
5-90485683-C-T		not specified	Uncertain significance (Apr 04, 2024)
5-90488019-T-A		not specified	Uncertain significance (Oct 08, 2024)
5-90495709-G-A		not specified	Uncertain significance (Aug 19, 2024)
5-90497665-G-T		not specified	Uncertain significance (Feb 23, 2023)
5-90497689-G-T		not specified	Uncertain significance (Nov 10, 2024)
5-90501917-C-T		not specified	Likely benign (Jan 06, 2023)
5-90501935-G-A		not specified	Likely benign (Dec 06, 2021)
5-90501939-G-A		not specified	Uncertain significance (Sep 01, 2021)
5-90506609-G-A		not specified	Uncertain significance (Feb 23, 2023)
5-90506660-G-A		not specified	Uncertain significance (Nov 03, 2023)
5-90512101-G-A		not specified	Uncertain significance (Nov 15, 2021)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
POLR3G	protein_coding	protein_coding	ENST00000399107	7	42806

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
1.76e-10	0.0337	124732	0	56	124788	0.000224

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.352	104	115	0.908	0.00000545	1500
Missense in Polyphen		37	37.454	0.98787		526
Synonymous	0.317	36	38.5	0.935	0.00000213	349
Loss of Function	-0.451	14	12.3	1.14	5.16e-7	191

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000220	0.000217
Ashkenazi Jewish	0.00	0.00
East Asian	0.000173	0.000167
Finnish	0.0000466	0.0000464
European (Non-Finnish)	0.000334	0.000327
Middle Eastern	0.000173	0.000167
South Asian	0.000280	0.000261
Other	0.000333	0.000330

dbNSFP

Source: dbNSFP

• Function: FUNCTION: DNA-dependent RNA polymerase catalyzes the transcription of DNA into RNA using the four ribonucleoside triphosphates as substrates. Specific peripheric component of RNA polymerase III which synthesizes small RNAs, such as 5S rRNA and tRNAs (PubMed:20154270). May direct with other members of the RPC3/POLR3C-RPC6/POLR3F-RPC7/POLR3G subcomplex RNA Pol III binding to the TFIIIB-DNA complex via the interactions between TFIIIB and POLR3F. May be involved either in the recruitment and stabilization of the subcomplex within RNA polymerase III, or in stimulating catalytic functions of other subunits during initiation. Plays a key role in sensing and limiting infection by intracellular bacteria and DNA viruses. Acts as nuclear and cytosolic DNA sensor involved in innate immune response. Can sense non-self dsDNA that serves as template for transcription into dsRNA. The non-self RNA polymerase III transcripts, such as Epstein-Barr virus-encoded RNAs (EBERs), induce type I interferon and NF- Kappa-B through the RIG-I pathway (PubMed:19609254, PubMed:19631370). {ECO:0000269|PubMed:19609254, ECO:0000269|PubMed:19631370, ECO:0000269|PubMed:20154270}.
• Pathway: Pyrimidine metabolism - Homo sapiens (human);Cytosolic DNA-sensing pathway - Homo sapiens (human);RNA polymerase - Homo sapiens (human);Purine metabolism - Homo sapiens (human);Epstein-Barr virus infection - Homo sapiens (human);Pyrimidine metabolism;Gene expression (Transcription);Purine metabolism;Pyrimidine metabolism;RNA Polymerase III Transcription Termination;RNA Polymerase III Chain Elongation;RNA Polymerase III Abortive And Retractive Initiation;RNA Polymerase III Transcription Initiation From Type 1 Promoter;RNA Polymerase III Transcription Initiation From Type 2 Promoter;RNA Polymerase III Transcription Initiation From Type 3 Promoter;RNA Polymerase III Transcription Initiation;RNA Polymerase III Transcription (Consensus)

Intolerance Scores

• loftool: 0.534
• rvis_EVS: -0.16
• rvis_percentile_EVS: 41.25

Haploinsufficiency Scores

• pHI: 0.332
• hipred: N
• hipred_score: 0.376
• ghis: 0.605

Essentials

• essential_gene_CRISPR: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.708

Gene Damage Prediction

	All	Recessive	Dominant
Mendelian	Medium	Medium	Medium
Primary Immunodeficiency	Medium	Medium	Medium
Cancer	Medium	Medium	Medium

Mouse Genome Informatics

• Gene name: Polr3g
• Phenotype: mortality/aging (the observable characteristics related to the ability of a mammalian organism to live and age that are manifested throughout development and life span)

Gene ontology

• Biological process: regulation of transcription by RNA polymerase III;transcription by RNA polymerase III;cell population proliferation;positive regulation of interferon-beta production;innate immune response;positive regulation of innate immune response;defense response to virus
• Cellular component: nuclear chromatin;nucleus;nucleoplasm;RNA polymerase III complex;cytosol
• Molecular function: DNA-directed 5'-3' RNA polymerase activity;protein binding